ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1251G>C (p.Thr417=)

gnomAD frequency: 0.00010  dbSNP: rs142309356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712183 SCV000512192 likely benign not provided 2021-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001495659 SCV001700343 likely benign Familial hemiplegic migraine 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950345 SCV004764584 likely benign ATP1A2-related disorder 2020-03-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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